ClinVar Miner

List of variants reported as benign for HNSHA due to aldolase A deficiency by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001243177.4(ALDOA):c.1161+17G>T rs2071390 0.13976
NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=) rs77290575 0.01088
NM_001243177.4(ALDOA):c.542-16C>A rs78124282 0.00797
NM_001243177.4(ALDOA):c.411A>G (p.Thr137=) rs76767223 0.00362
NM_001243177.4(ALDOA):c.973C>T (p.Leu325=) rs111252736 0.00022
NM_001243177.4(ALDOA):c.486+17C>G rs78209292

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